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rs80359375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AATT) 6 BRCA2 variant considered pathogenic for breast cancer
(AATT;AATT) 0 common in clinvar


Make rs80359375(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32337547
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359375
ebirs80359375
HLIrs80359375
Exacrs80359375
Varsomers80359375
Maprs80359375
PheGenIrs80359375
hapmaprs80359375
1000 genomesrs80359375
hgdprs80359375
ensemblrs80359375
gopubmedrs80359375
geneviewrs80359375
scholarrs80359375
googlers80359375
pharmgkbrs80359375
gwascentralrs80359375
openSNPrs80359375
23andMers80359375
23andMe allrs80359375
SNP Nexus

SNPshotrs80359375
SNPdbers80359375
MSV3drs80359375
GWAS Ctlgrs80359375
Max Magnitude6
rs80359375, also known as 3420del4, c.3192_3195delAATT and p.Ser1064_Ile1065?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359375(;)
Alt rs80359375(;)
Reference rs80359375(AATT;AATT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911687_32911690delTAAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044143.3, RCV000113145.2,